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Select item 104040301.

Development of a novel prediction model based on protein structure for identifying RPE65-associated inherited retinal disease (IRDs) of missense variants

Jiawen Wu, Zhongmou Sun, Dao wei Zhang, Hong-Li Liu, Ting Li, Shenghai Zhang, Jihong Wu

PeerJ. 2023; 11: e15702. Published online 2023 Aug 2. doi: 10.7717/peerj.15702

PMCID:: PMC10404030

Abstract Article PDF–6.9M

Select item 101511742.

Voretigene Neparvovec for the Treatment of RPE65-associated Retinal Dystrophy: Consensus and Recommendations from the Korea RPE65-IRD Consensus Paper Committee

Jinu Han, Kwangsic Joo, Ungsoo Samuel Kim, Se Joon Woo, Eun Kyoung Lee, Joo Yong Lee, Tae Kwann Park, Sang Jin Kim, Suk Ho Byeon, on behalf of the Korea RPE65-IRD Consensus Paper Committee

Korean J Ophthalmol. 2023 Apr; 37(2): 166–186. Published online 2023 Mar 23. doi: 10.3341/kjo.2023.0008

PMCID:: PMC10151174

Abstract Article PDF–3.3M

Select item 96886073.

The Predicted Splicing Variant c.11+5G>A in RPE65 Leads to a Reduction in mRNA Expression in a Cell-Specific Manner

Irene Vázquez-Domínguez, Lonneke Duijkers, Zeinab Fadaie, Eef C. W. Alaerds, Merel A. Post, Edwin M. van Oosten, Luke O’Gorman, Michael Kwint, Louet Koolen, Anita D. M. Hoogendoorn, Hester Y. Kroes, Christian Gilissen, Frans P. M. Cremers, Rob W. J. Collin, Susanne Roosing, Alejandro Garanto

Cells. 2022 Nov; 11(22): 3640. Published online 2022 Nov 17. doi: 10.3390/cells11223640

PMCID:: PMC9688607

Abstract Article PDF–3.4M

Select item 94219384.

Frequency of RPE65 Gene Mutation in Patients with Hereditary Retinal Dystrophy

Neslihan Sinim Kahraman, Ayşe Öner, Yusuf Özkul, Munis Dündar

Turk J Ophthalmol. 2022 Aug; 52(4): 270–275. Published online 2022 Aug 25. doi: 10.4274/tjo.galenos.2021.74944

PMCID:: PMC9421938

Abstract Article PDF–706K

Select item 92257915.

Predicting potentially pathogenic effects of hRPE65 missense mutations: a computational strategy based on molecular dynamics simulations

Giulio Poli, Ivana Barravecchia, Gian Carlo Demontis, Andrea Sodi, Alessandro Saba, Stanislao Rizzo, Marco Macchia, Tiziano Tuccinardi

J Enzyme Inhib Med Chem. 2022; 37(1): 1765–1772. Published online 2022 Jun 21. doi: 10.1080/14756366.2022.2090547

PMCID:: PMC9225791

Abstract Article PDF–2.2M

Select item 89181616.

Epidemiology of Mutations in the 65-kDa Retinal Pigment Epithelium (RPE65) Gene-Mediated Inherited Retinal Dystrophies: A Systematic Literature Review

Juliana M. F. Sallum, Vinay Preet Kaur, Javed Shaikh, Judit Banhazi, Claudio Spera, Celia Aouadj, Daniel Viriato, M. Dominik Fischer

Adv Ther. 2022; 39(3): 1179–1198. Published online 2022 Jan 30. doi: 10.1007/s12325-021-02036-7

PMCID:: PMC8918161

Abstract Article PDF–1.1M

Select item 88223667.

RPE65-Associated Retinopathies in the Italian Population: A Longitudinal Natural History Study

Francesco Testa, Vittoria Murro, Sabrina Signorini, Leonardo Colombo, Giancarlo Iarossi, Francesco Parmeggiani, Benedetto Falsini, Anna Paola Salvetti, Raffaella Brunetti-Pierri, Giorgia Aprile, Chiara Bertone, Agnese Suppiej, Francesco Romano, Marianthi Karali, Simone Donati, Paolo Melillo, Andrea Sodi, Luciano Quaranta, Luca Rossetti, Luca Buzzonetti, Marzio Chizzolini, Stanislao Rizzo, Giovanni Staurenghi, Sandro Banfi, Claudio Azzolini, Francesca Simonelli

Invest Ophthalmol Vis Sci. 2022 Feb; 63(2): 13. Published online 2022 Feb 7. doi: 10.1167/iovs.63.2.13

PMCID:: PMC8822366

Abstract Article PDF–2.2M

Select item 84976358.

Perifoveal Chorioretinal Atrophy following Subretinal Voretigene Neparvovec-rzyl for RPE65-mediated Leber Congenital Amaurosis

William S. Gange, Robert A. Sisk, Cagri G. Besirli, Thomas C. Lee, Margaret Havunjian, Hillary Schwartz, Mark Borchert, Jesse D. Sengillo, Carlos Mendoza, Audina M. Berrocal, Aaron Nagiel

Ophthalmol Retina. Author manuscript; available in PMC 2023 Jan 1.

Published in final edited form as: Ophthalmol Retina. 2022 Jan; 6(1): 58–64. Published online 2021 Apr 8. doi: 10.1016/j.oret.2021.03.016

PMCID:: PMC8497635

Abstract Article PDF–777K

Select item 83921139.

Leber’s Congenital Amaurosis: Current Concepts of Genotype-Phenotype Correlations

Chu-Hsuan Huang, Chung-May Yang, Chang-Hao Yang, Yu-Chih Hou, Ta-Ching Chen

Genes (Basel) 2021 Aug; 12(8): 1261. Published online 2021 Aug 19. doi: 10.3390/genes12081261

PMCID:: PMC8392113

Abstract Article PDF–325K

Select item 826866810.

Inherited Retinal Diseases Due to RPE65 Variants: From Genetic Diagnostic Management to Therapy

Manar Aoun, Ilaria Passerini, Pietro Chiurazzi, Marianthi Karali, Irene De Rienzo, Giovanna Sartor, Vittoria Murro, Natalia Filimonova, Marco Seri, Sandro Banfi

Int J Mol Sci. 2021 Jul; 22(13): 7207. Published online 2021 Jul 5. doi: 10.3390/ijms22137207

PMCID:: PMC8268668

Abstract Article PDF–646K

Select item 816503011.

Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome

Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi

Cell. Author manuscript; available in PMC 2022 May 27.

Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011

PMCID:: PMC8165030

Abstract Article PDF–2.2M

Select item 809779912.

Frequency and phenotypic characteristics of RPE65 mutations in the Chinese population

Feng-Juan Gao, Dan-Dan Wang, Jian-Kang Li, Fang-Yuan Hu, Ping Xu, Fang Chen, Yu-He Qi, Wei Liu, Wei Li, Sheng-Hai Zhang, Qing Chang, Ge-Zhi Xu, Ji-Hong Wu

Orphanet J Rare Dis. 2021; 16: 174. Published online 2021 Apr 13. doi: 10.1186/s13023-021-01807-3

PMCID:: PMC8097799

Abstract Article PDF–2.1M

Select item 776059313.

Properties and Therapeutic Implications of an Enigmatic D477G RPE65 Variant Associated with Autosomal Dominant Retinitis Pigmentosa

Anna-Sophia Kiang, Paul F. Kenna, Marian M. Humphries, Ema Ozaki, Robert K. Koenekoop, Matthew Campbell, G. Jane Farrar, Pete Humphries

Genes (Basel) 2020 Dec; 11(12): 1420. Published online 2020 Nov 27. doi: 10.3390/genes11121420

PMCID:: PMC7760593

Abstract Article PDF–8.4M

Select item 758376214.

Involvement of the Retinal Pigment Epithelium in the Development of Retinal Lattice Degeneration

Hiroshi Mizuno, Masanori Fukumoto, Takaki Sato, Taeko Horie, Teruyo Kida, Hidehiro Oku, Kimitoshi Nakamura, Denan Jin, Shinji Takai, Tsunehiko Ikeda

Int J Mol Sci. 2020 Oct; 21(19): 7347. Published online 2020 Oct 5. doi: 10.3390/ijms21197347

PMCID:: PMC7583762

Abstract Article PDF–2.2M

Select item 742363915.

Evolutionary aspects and enzymology of metazoan carotenoid cleavage oxygenases

Eugenia Poliakov, Sheetal Uppal, Igor B. Rogozin, Susan Gentleman, T. Michael Redmond

Biochim Biophys Acta Mol Cell Biol Lipids. Author manuscript; available in PMC 2021 Nov 1.

Published in final edited form as: Biochim Biophys Acta Mol Cell Biol Lipids. 2020 Nov; 1865(11): 158665. Published online 2020 Feb 12. doi: 10.1016/j.bbalip.2020.158665

PMCID:: PMC7423639

Abstract Article PDF–1.0M

Select item 720578016.

Late presentation of RPE65 retinopathy in three siblings

Moustafa Magliyah, Amjad Ameen Saifaldein, Patrik Schatz

Doc Ophthalmol. 2020; 140(3): 289–297. Published online 2020 Jan 10. doi: 10.1007/s10633-019-09745-z

PMCID:: PMC7205780

Abstract Article PDF–1.1M

Select item 707915617.

RPE65 mutation frequency and phenotypic variation according to exome sequencing in a tertiary centre for genetic eye diseases in China

Shiqiang Li, Xueshan Xiao, Zhen Yi, Wenmin Sun, Panfeng Wang, Qingjiong Zhang

Acta Ophthalmol. 2020 Mar; 98(2): e181–e190. Published online 2019 Jul 5. doi: 10.1111/aos.14181

PMCID:: PMC7079156

Abstract Article PDF–2.5M

Select item 701665518.

Pathogenicity Reclassification of RPE65 Missense Variants Related to Leber Congenital Amaurosis and Early-Onset Retinal Dystrophy

Fabiana L. Motta, Renan P. Martin, Fernanda B. O. Porto, Elizabeth S. Wohler, Rosane G. Resende, Caio P. Gomes, João B. Pesquero, Juliana M. F. Sallum

Genes (Basel) 2020 Jan; 11(1): 24. Published online 2019 Dec 24. doi: 10.3390/genes11010024

PMCID:: PMC7016655

Abstract Article PDF–832K

Select item 701275719.

Impacts of deletion and ichthyosis prematurity syndrome -associated mutations in fatty acid transport protein 4 on the function of RPE65

Songhua Li, John F. Green, Minghao Jin

FEBS Lett. Author manuscript; available in PMC 2021 Feb 1.

Published in final edited form as: FEBS Lett. 2020 Feb; 594(3): 540–552. Published online 2019 Oct 20. doi: 10.1002/1873-3468.13633

PMCID:: PMC7012757

Abstract Article PDF–847K

Select item 699651920.

Phenotypic expansion of autosomal dominant retinitis pigmentosa associated with the D477G mutation in RPE65

Ruben Jauregui, Ahra Cho, Jin Kyun Oh, Akemi J. Tanaka, Janet R. Sparrow, Stephen H. Tsang

Cold Spring Harb Mol Case Stud. 2020 Feb; 6(1): a004952. doi: 10.1101/mcs.a004952

PMCID:: PMC6996519

Abstract Article PDF–6.8M

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PMC Links for GEO Profiles (Select 86248754) (77)
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cytochrome P450, putative [Phytophthora infestans T30-4]
cytochrome P450, putative [Phytophthora infestans T30-4]
gi|262106687|gb|EEY64739.1||gnl|WGS |PITG_21759T0

Protein
Lepus
Lepus
Whole-exome data from 15 hare species (genus Lepus spp.) species and pygmy rabbit (Brachylagus idahoensis). Raw sequence reads

BioProject
Tricholoma stiparophyllum voucher HMGAU7821 Ilv2 protein (Ilv2) gene, partial cd...
Tricholoma stiparophyllum voucher HMGAU7821 Ilv2 protein (Ilv2) gene, partial cds
gi|2288965857|gb|MW745494.1|

Nucleotide

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